N471D变异(替换为GAC的AAT)在1411到1413位点插入,同时通过同源重组插入了floxed neo cassette。随后,通过Cre介导的重组移除了neo cassette和修改的exon,产生了无功能的等位基因。(来源:J:306098)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count